Variant report
| Variant | esv3408282 |
|---|---|
| Chromosome Location | chr18:14495052-14497850 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs140728508 | chr18:14495606-14495607 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 2 | rs9973171 | chr18:14495615-14495616 | Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 3 | rs560397179 | chr18:14495616-14495617 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 4 | rs554234717 | chr18:14495695-14495696 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs574485646 | chr18:14495721-14495722 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs183038570 | chr18:14495760-14495761 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 7 | rs527646570 | chr18:14495784-14495785 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs138136325 | chr18:14495787-14495788 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 9 | rs188132672 | chr18:14495798-14495799 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 10 | rs545999145 | chr18:14495829-14495830 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 11 | rs192950347 | chr18:14495885-14495886 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs200723331 | chr18:14495917-14495918 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs545130954 | chr18:14495922-14495923 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs149149329 | chr18:14495953-14495954 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs542215273 | chr18:14496020-14496021 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs6505911 | chr18:14496037-14496038 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs530809210 | chr18:14496042-14496043 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs533918465 | chr18:14496061-14496062 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs71176042 | chr18:14496081-14496082 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs550698998 | chr18:14496107-14496108 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs564227812 | chr18:14496112-14496113 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs112143247 | chr18:14496150-14496151 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 23 | rs546853115 | chr18:14496181-14496182 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 24 | rs549949761 | chr18:14496182-14496183 | Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:53)
| Disease | PMID | Source |
|---|---|---|
| Chronic lymphocytic leukemia | 21546498 | CNVD |
| Intellectual disability | 22102821 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Acute myeloid leukemia | 16864856 | CNVD |
| Seminomas | 18059402 | CNVD |
| Chronic lymphocytic leukemia | 18922857 | CNVD |
| Kartagener syndrome | 16639409 | CNVD |
| Basal cell lymphoma | 21115979 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Cancer | 21183584 | CNVD |
| Esophageal squamous carcinoma | 18350619 | CNVD |
| Endometrioid adenocarcinoma | 16974079 | CNVD |
| Basal cell lymphoma | 17053054 | CNVD |
| Colorectal cancer | 19359472 | CNVD |
| Human rectal carcinomas | 16397240 | CNVD |
| Melanoma | 18172304 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Colorectal cancer | 19150955 | CNVD |
| Follicular lymphoma | 20505157 | CNVD |
| Chordoma | 21602918 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Neuroblastoma | 18923191 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Cancer | 21637783 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Splenic marginal zone lymphoma | 21957467 | CNVD |
| Trisomy 18 syndrome | 17576883 | CNVD |
| lymphocytic leukemia | 21291569 | CNVD |
| Barrett''s syndrome | 19417022 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Multiple myeloma | 17550852 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Heart disease | 21282601 | CNVD |
| Glioblastoma multiforme | 21922591 | CNVD |
| Basal cell lymphoma | 16317097 | CNVD |
| Diffuse large b-cell lymphoma | 16317097 | CNVD |
| low-grade B-cell lymphoma tumor | 18367492 | CNVD |
| Acute myeloid leukemia | 17377590 | CNVD |
| Acute lymphoblastic leukemia | 17690704 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Breast cancer | 16620391 | CNVD |
| Myelofibrosis | 22110671 | CNVD |
| Retinoblastoma | 21504564 | CNVD |
| Glioma | 17123091 | CNVD |
| Neurodevelopmental disorder | 22521361 | CNVD |
| Breast cancer | 21509527 | CNVD |
| Non-syndromic sensorineural hearing loss | 17122850 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Non-syndromic sensorineural hearing loss | 19587683 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr18:14495600-14496200 | Enhancers | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
